Variant report

Variant	rs10982108
Chromosome Location	chr9:116973014-116973015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10116561	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10118296	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10119723	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10119750	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10119751	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10119877	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10120779	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10120783	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10121745	1.00[EUR][1000 genomes]
rs10121923	1.00[AFR][1000 genomes]
rs10122722	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10982104	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10982106	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12115652	1.00[EUR][1000 genomes]
rs12115691	1.00[EUR][1000 genomes]
rs12353056	1.00[EUR][1000 genomes]
rs28459368	1.00[EUR][1000 genomes]
rs28461407	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28545589	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28578933	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57238217	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58901436	1.00[EUR][1000 genomes]
rs59359176	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60666664	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60869479	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61063356	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73562583	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv466533	chr9:116930100-117248479	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	128 gene(s)	inside rSNPs	diseases
7	nsv615233	chr9:116930100-117248479	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	128 gene(s)	inside rSNPs	diseases
8	nsv1051544	chr9:116944940-117443031	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
9	nsv540203	chr9:116944940-117443031	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
10	nsv1048093	chr9:116945025-117456210	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
11	nsv1050991	chr9:116953739-117442999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv1046311	chr9:116953739-117447142	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
13	nsv1052877	chr9:116953739-117456210	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
14	nsv1039681	chr9:116953739-117457158	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
15	nsv1051987	chr9:116955841-117453668	Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv1044374	chr9:116955841-117460150	Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
17	nsv466534	chr9:116956268-117455810	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
18	nsv615234	chr9:116956268-117455810	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
19	nsv1048817	chr9:116957958-117456210	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
20	nsv615235	chr9:116958144-117367061	ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
21	nsv615236	chr9:116958144-117455810	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
22	nsv466535	chr9:116958144-117456175	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
23	nsv615237	chr9:116958144-117456175	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
24	nsv615238	chr9:116958144-117458475	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
25	nsv430094	chr9:116958446-117456446	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116952400-116986600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:116953200-116973600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:116953400-116985800	Weak transcription	A549	lung
4	chr9:116954600-116986000	Weak transcription	Hela-S3	cervix
5	chr9:116966400-116978200	Weak transcription	Lung	lung
6	chr9:116967000-116980000	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr9:116967800-116977400	Strong transcription	Liver	Liver
8	chr9:116967800-116986000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr9:116968400-116980000	Enhancers	Fetal Heart	heart
10	chr9:116968600-116985600	Strong transcription	HepG2	liver
11	chr9:116969000-116975600	Weak transcription	Fetal Kidney	kidney
12	chr9:116969200-116976200	Weak transcription	Aorta	Aorta
13	chr9:116969800-116973400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr9:116969800-116975400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:116969800-116976000	Weak transcription	Fetal Brain Female	brain
16	chr9:116969800-116976600	Weak transcription	Fetal Brain Male	brain
17	chr9:116969800-116977000	Weak transcription	Fetal Thymus	thymus
18	chr9:116969800-116981400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr9:116969800-116986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr9:116969800-116986000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr9:116969800-116993400	Weak transcription	Stomach Mucosa	stomach
22	chr9:116970000-116973200	Weak transcription	Esophagus	oesophagus
23	chr9:116970000-116975000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:116970000-116977400	Weak transcription	Colon Smooth Muscle	Colon
25	chr9:116970000-116978200	Weak transcription	Brain Anterior Caudate	brain
26	chr9:116970000-116978400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr9:116970000-116982800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr9:116970000-116987400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr9:116970200-116973400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:116970200-116975400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:116970200-116975800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr9:116970200-116976400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr9:116970200-116976600	Weak transcription	HMEC	breast
34	chr9:116970200-116977000	Strong transcription	Fetal Intestine Small	intestine
35	chr9:116970200-116977200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:116970200-116977400	Strong transcription	Fetal Intestine Large	intestine
37	chr9:116970200-116977400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr9:116970200-116978200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:116970200-116978600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:116970400-116973600	Weak transcription	Osteobl	bone
41	chr9:116970400-116976000	Weak transcription	HSMM	muscle
42	chr9:116970400-116976200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:116970400-116976200	Weak transcription	NH-A	brain
44	chr9:116970400-116976400	Weak transcription	Right Atrium	heart
45	chr9:116970400-116978200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:116970400-116979400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr9:116970400-116981400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:116970400-116985800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr9:116970800-116974000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr9:116970800-116974400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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